Revel Score:
ENST00000358956
0.268
ENST00000375687 (MANE Select)
0.268
ENST00000421155
0.268
ENST00000412498
0.268
ENST00000306058
0.268
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32435701G>A , CM000682.2:g.32435701G>A | GRCh38 |
| NC_000020.10:g.31023504G>A , CM000682.1:g.31023504G>A | GRCh37 |
| NC_000020.9:g.30487165G>A | NCBI36 |
| NG_027868.1:g.82358G>A , LRG_630:g.82358G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.2989G>A MANE Select | ENSP00000364839.4:p.Glu997Lys | |
| ENST00000646985.1:c.2806G>A | ENSP00000495053.1:p.Glu936Lys | |
| ENST00000647223.1:n.5342G>A | ||
| ENST00000651418.1:c.1869+1120G>A | ENSP00000499150.1:n.1869+1120G>A | |
| ENST00000306058.9:c.2974G>A | ENSP00000305119.5:p.Glu992Lys | |
| ENST00000375687.8:c.2989G>A | ENSP00000364839.4:p.Glu997Lys | |
| ENST00000613218.4:c.2989G>A | ENSP00000480487.1:p.Glu997Lys | |
| ENST00000620121.4:c.2989G>A | ENSP00000481978.1:p.Glu997Lys | |
| NM_015338.5:c.2989G>A , LRG_630t1:c.2989G>A | NP_056153.2:p.Glu997Lys | |
| XM_006723727.2:c.2986G>A | XP_006723790.1:p.Glu996Lys | |
| XM_006723728.2:c.2959G>A | XP_006723791.1:p.Glu987Lys | |
| XM_006723730.2:c.2905G>A | XP_006723793.1:p.Glu969Lys | |
| XM_006723732.2:c.2806G>A | XP_006723795.1:p.Glu936Lys | |
| XM_006723733.1:c.2305G>A | XP_006723796.1:p.Glu769Lys | |
| XM_011528647.1:c.3253G>A | XP_011526949.1:p.Glu1085Lys | |
| XM_011528648.1:c.3250G>A | XP_011526950.1:p.Glu1084Lys | |
| XM_011528649.1:c.3169G>A | XP_011526951.1:p.Glu1057Lys | |
| XM_011528650.1:c.3100G>A | XP_011526952.1:p.Glu1034Lys | |
| XM_011528651.1:c.2968G>A | XP_011526953.1:p.Glu990Lys | |
| XM_011528652.1:c.2905G>A | XP_011526954.1:p.Glu969Lys | |
| NM_001363734.1:c.2806G>A | NP_001350663.1:p.Glu936Lys | |
| XM_006723727.3:c.2986G>A | XP_006723790.1:p.Glu996Lys | |
| XM_006723728.3:c.2959G>A | XP_006723791.1:p.Glu987Lys | |
| XM_006723730.4:c.2905G>A | XP_006723793.1:p.Glu969Lys | |
| XM_011528648.3:c.3250G>A | XP_011526950.1:p.Glu1084Lys | |
| XM_011528652.2:c.2905G>A | XP_011526954.1:p.Glu969Lys | |
| XM_017027704.1:c.2905G>A | XP_016883193.1:p.Glu969Lys | |
| XM_017027705.1:c.2905G>A | XP_016883194.1:p.Glu969Lys | |
| XM_017027706.1:c.2836G>A | XP_016883195.1:p.Glu946Lys | |
| NM_015338.6:c.2989G>A MANE Select | NP_056153.2:p.Glu997Lys |